James Ware

Last week we went to the Cardiomyopathy UK Midlands HCP Study Day to share what we’re doing with specialists from across the UK.

Thank you to everyone who has been helping us to open up research to more people, and to all the Heart Hivers who have given up their time to take part in research ❤

🧬 New @emblebi.bsky.social service beta launched:
Perturbation Catalogue

🔎 Browse genetic perturbation datasets
🧠 Train models
🧬 Interpret variant function
🧭 Explore gene dependencies

Search, test APIs, suggest datasets, send feedback!
🔗 www.ebi.ac.uk/perturbation...

Funded by @opentargets.org

Study reveals the hidden benefits of weight loss on fat tissue Scientists from the MRC Laboratory of Medical Sciences (LMS) and Imperial College London have produced the first detailed characterisation of the changes that weight loss causes in human fat tissue by...

A new study, published today in Nature, reveals the hidden benefits of weight loss on fat tissue.

A better understanding of how weight loss leads to health improvements at a molecular level could help inform the development of therapies for diseases such as type 2 diabetes in the future.

Renewal of NIH grants linked to more innovative results, study finds Survey of hundreds of scientists’ work suggests that cutting off funding disrupts focus and reduces the novelty of research.

Survey of hundreds of scientists’ work suggests that cutting off funding disrupts focus and reduces the novelty of research.

#academicSky 🧪

www.nature.com/articles/d41...

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen

Our paper now published! 🙌🏻🧬🫀

@alexbutters25.bsky.social
@k-jt.bsky.social
@njhenden.bsky.social
@dgmacarthur.bsky.social
@kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social

doi.org/10.1093/eurh...

Emerging Innovators Fellowship - MRC Laboratory of Medical Sciences The Emerging Innovators Fellowship is a new 3-year fully-funded postdoctoral fellowship for scientists from Black Heritage Backgrounds.

There's still time to apply for an Emerging Innovators Fellowship for scientists of Black heritage!

If you’re ready to take the next step in your career and make an impact in the world of biomedical research, we encourage you to apply.

Applications close 11 May 2025.

Find out more 👇

🚨 New paper alert! 🚨
Using SHaRe registry data, we explored how clinical & genetic risk factors influence heart failure, arrhythmias, and mortality in men & women with HCM.
This study, from my PhD, emphasises the need for sex-specific approaches to improve care.

📖 Read more: bit.ly/41vlF9r

🚨Our double header on genetics of hypertrophic #cardiomyopathy out today in @naturegenet.bsky.social 🧬

📍GWAS www.nature.com/articles/s41...
📍polygenic scores www.nature.com/articles/s41...

A consortia effort by @jamesware.bsky.social Hugh Watkins @conniebezzina.bsky.social Rafik Tadros & Anuj Goel

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29

Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...

TWO STAR co-first authors did most of the heavy lifting on this: Sophie Hespe and Amber Waddell 🌟 🌟 And huge high five to our biocurators and experts @jamesware.bsky.social @roddywalsh.bsky.social @chloereuter.bsky.social @andrewlandstrom.bsky.social @anwarchahal.bsky.social +++

We’re really excited to focus on understanding takotsubo cardiomyopathy. Have your say and take part in research to help us find the causes, risks, and treatments 💪🫀🧬 @thebhf.bsky.social

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease: A clinical consensus statement of the ESC Council on Cardiovascular Genomics, the ESC Cardiovascular... Abstract. Genome-wide association studies have revealed hundreds of genetic variants associated with cardiovascular diseases (CVD). Polygenic risk scores (

The long awaited European guidelines for the use of Polygenic score for primary prevention of cardiovascular diseases are out!

It took > 10 years from the first results proposing its use as additional screening factor among patients with intermediate CVD risk

academic.oup.com/eurheartj/ad...

Most cardiac arrests happen at home, and knowing CPR could save the life of someone you love. All you need is your phone and a cushion to learn CPR in just 15 minutes, for free with RevivR. Be ready for when it matters most. ❤️ Find out more about RevivR here: bit.ly/3E7D0fg:

February is #HeartMonth! Want to get involved in heart research but not sure how? The Heart Hive is an online portal where you can sign up to take part in research studies.

Go to thehearthive.org to find out more and register today.

#NationalHeartMonth #HeartResearch #ParticipateInResearch

Fantastic to work with Emma, a patient-scientist with DCM, on this review informed by her perspective, please check it out!
www.cambridge.org/core/journal...

🚨🚨🚨 In collaboration with @pnatarajanmd.bsky.social we are excited to launch gVasc, a new biobank focused on the genetics of spontaneous coronary artery dissection (SCAD)! with a participant-facing enrollment portal,
👉 gvascstudy.org 👈

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders @jamesware.bsky.social @kathrynmcgurk.bsky.social

Cardiac case/control cohort data, which demonstrates the confidence of cardiac gene-phenotype relationships associated with specific variant classes, has been updated; more variant classes e.g. canonical splice site variants @jamesware.bsky.social @kathrynmcgurk.bsky.social

Estimated population penetrance for variants associated with cardiomyopathies are now displayed alongside cardiac allele frequencies. This information is useful when considering secondary findings @jamesware.bsky.social @kathrynmcgurk.bsky.social

DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

Programme Leader Track - MRC Laboratory of Medical Sciences Programme Leader Track appointments are an open-ended contract, which comprises a six-year advanced career development scheme after which you will be considered for promotion to Programme Leader.

We’re hiring for Programme Leader Track positions! This is an outstanding opportunity to advance your career in a discovery science institute of world-leading excellence.

Application deadline is 13 January 2025.

lms.mrc.ac.uk/work/vacanci...

Are you a computational biologist, looking for a role in a diverse and collaborative team, and eager to help us understand genetic heart muscle diseases? Come and join us. Closing date 12th January...

Check out our @mrc-lms.bsky.social Programme Leader Track opportunities - open for Submission of applications until 13/01/2025, interviews for shortlisted candidates in March lms.mrc.ac.uk/wp-content/u... #scisky #medsky

Programme Leader Track - MRC Laboratory of Medical Sciences Programme Leader Track appointments are an open-ended contract, which comprises a six-year advanced career development scheme after which you will be considered for promotion to Programme Leader.

We’re delighted to share our recruitment brochure for our current Programme Leader Track vacancies at the MRC Laboratory of Medical Sciences.

You can download the brochure on our vacancy web page 👇
lms.mrc.ac.uk/work/vacanci...

Fantastic opportunity of funded research position for clinician scientists in training (predoctoral fellowships). Come and see why the LMS is a fun and rewarding place to do science...

Image of a PhD student next to a quote by him - “I immediately felt at home at the LMS thanks to my highly supportive research group and friendly research environment. The state-of-the-art building with its wonderful facilities makes it a true joy for me to come to work every day and contribute to the growing body of science in the field of human infertility”

The deadline to apply for our PhD studentships is fast approaching!

If you’d like to study a PhD at the LMS make sure to get your applications in by the 6th of December!

If our world class science isn't convincing enough, then hear what our students have to say

lms.mrc.ac.uk/work-and-stu...

#ParentalLeave is an important part of the journey towards #GenderEquity at the workplace, which is why the LMS supports those on parental leave through our #RovingResearchers

www.nature.com/articles/d41...

The @mrc-lms.bsky.social kicks off at the wonderful Royal Institution with talk on #teamscience by @wiebkearlt.bsky.social.

We discussed many labels. It is a v specific subset of LV sys dysfunction after excluding CAD, haemodynamic causes etc. In any case - I hope our methods & rationale are now clear - with rg=1 between the traits (& concordant w prev rare var correlation) we were happy to analyse jointly

So 6000 people met all diagnostic criteria for DCM. 9000 people had impaired function +/- dilatation: many of these are likely also be dilated, but we do not have coded data to confirm. They could be coded as DCM or NDLVC/HNDC, but these do not appear to be etiologically distinct disease entities